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Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect

Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect
Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect
Extra euchromatic material was found within the major heterochromatic block of chromosome 16 (16qh) in one de novo case and seven members of two families. In contrast to the euchromatic variants of chromosome 9 (9qh), which are derived from pericentromeric euchromatin, molecular cytogenetics confirmed that these duplications were of 16q11.2-->q12.2 in the de novo case, of 16q11.2-->q13 in three members of family 1 and 16q11.2-->q12.1 in four members of family 2. The duplication had arisen as a post-zygotic mitotic event in the mother of family 1 and been transmitted paternally in family 2. An insertional mechanism of origin is proposed for the duplications in case 1 and family 1. Expression at the 16q13 matrix metalloproteinase-2 (MMP2)locus in families 1 and 2 was proportional to genomic copy number and not therefore consistent with position effect silencing due to the flanking blocks of heterochromatin. We conclude that proximal 16q duplications within 16qh are not novel euchromatic variants but associated with a variable phenotype including developmental delay, speech delay, learning difficulties and behavioural problems. The behavioural problems in families ascertained through affected children are much less severe than those encountered in previous patients ascertained as adults.
heterochromatin, infant, pedigree, adult, variation (genetics), genetics, humans, gene duplication, patients, cytogenetics, expression, family, human, adolescent, chromosomes, chromosome mapping, chromatin, laboratories, phenotype, euchromatin, male, female, pair 16, report
1424-8581
351-358
Barber, J.C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Zhang, S.
76640b2c-83c0-4a90-bcd8-939ffb2505aa
Friend, N.
b4c04dfb-b421-4839-8d9c-d0b1f79b9330
Collins, A.L.
eb72a479-2336-4268-a837-79d926239de3
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Hastings, R.
d8e50738-66b3-45d6-8e74-993c2840ce58
Farren, B.
039164f6-8b89-4c08-93b9-513e172747ee
Barnicoat, A.
c8561251-9b82-4e73-92fe-e3e067f432e3
Polityko, A.D.
cc9b26c2-e5ff-43fd-858b-328b528770c1
Rumyantseva, N.V.
8a4e83d0-5fe3-4b14-a1f4-166ce43d6584
Starke, H.
48610ecf-b75f-4872-b228-80d69fb1e5e5
Ye, S.
73027825-861c-4bca-8ce6-67a325fa2d2c
Barber, J.C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Zhang, S.
76640b2c-83c0-4a90-bcd8-939ffb2505aa
Friend, N.
b4c04dfb-b421-4839-8d9c-d0b1f79b9330
Collins, A.L.
eb72a479-2336-4268-a837-79d926239de3
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Hastings, R.
d8e50738-66b3-45d6-8e74-993c2840ce58
Farren, B.
039164f6-8b89-4c08-93b9-513e172747ee
Barnicoat, A.
c8561251-9b82-4e73-92fe-e3e067f432e3
Polityko, A.D.
cc9b26c2-e5ff-43fd-858b-328b528770c1
Rumyantseva, N.V.
8a4e83d0-5fe3-4b14-a1f4-166ce43d6584
Starke, H.
48610ecf-b75f-4872-b228-80d69fb1e5e5
Ye, S.
73027825-861c-4bca-8ce6-67a325fa2d2c

Barber, J.C.K., Zhang, S., Friend, N., Collins, A.L., Maloney, V.K., Hastings, R., Farren, B., Barnicoat, A., Polityko, A.D., Rumyantseva, N.V., Starke, H. and Ye, S. (2006) Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenetic and Genome Research, 114 (3-4), 351-358. (doi:10.1159/000094225).

Record type: Article

Abstract

Extra euchromatic material was found within the major heterochromatic block of chromosome 16 (16qh) in one de novo case and seven members of two families. In contrast to the euchromatic variants of chromosome 9 (9qh), which are derived from pericentromeric euchromatin, molecular cytogenetics confirmed that these duplications were of 16q11.2-->q12.2 in the de novo case, of 16q11.2-->q13 in three members of family 1 and 16q11.2-->q12.1 in four members of family 2. The duplication had arisen as a post-zygotic mitotic event in the mother of family 1 and been transmitted paternally in family 2. An insertional mechanism of origin is proposed for the duplications in case 1 and family 1. Expression at the 16q13 matrix metalloproteinase-2 (MMP2)locus in families 1 and 2 was proportional to genomic copy number and not therefore consistent with position effect silencing due to the flanking blocks of heterochromatin. We conclude that proximal 16q duplications within 16qh are not novel euchromatic variants but associated with a variable phenotype including developmental delay, speech delay, learning difficulties and behavioural problems. The behavioural problems in families ascertained through affected children are much less severe than those encountered in previous patients ascertained as adults.

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More information

Published date: August 2006
Keywords: heterochromatin, infant, pedigree, adult, variation (genetics), genetics, humans, gene duplication, patients, cytogenetics, expression, family, human, adolescent, chromosomes, chromosome mapping, chromatin, laboratories, phenotype, euchromatin, male, female, pair 16, report

Identifiers

Local EPrints ID: 59480
URI: https://eprints.soton.ac.uk/id/eprint/59480
ISSN: 1424-8581
PURE UUID: 34a2c191-5f02-4d2c-97d3-6e9402d987f1

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Date deposited: 03 Sep 2008
Last modified: 13 Mar 2019 20:30

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Contributors

Author: J.C.K. Barber
Author: S. Zhang
Author: N. Friend
Author: A.L. Collins
Author: V.K. Maloney
Author: R. Hastings
Author: B. Farren
Author: A. Barnicoat
Author: A.D. Polityko
Author: N.V. Rumyantseva
Author: H. Starke
Author: S. Ye

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